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Symbol
Name
ID

Fbn1
fibrillin 1
MGI:95489

Phenotype annotations related to integument

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Abnormal eyebrow morphology

Long eyelashes

Telangiectasia

Lack of skin elasticity

Striae distensae

Reduced subcutaneous adipose tissue

Aplasia/Hypoplasia of the skin

Subcutaneous nodule

Stiff skin

Thickened skin

Sclerodactyly

Scleroderma

Disease(s) Associated with FBN1

acromicric dysplasia

geleophysic dysplasia 2

Marfan syndrome

mitral valve prolapse

stiff skin syndrome

systemic scleroderma

Weill-Marchesani syndrome

Mouse Phenotypes		integument phenotype	decreased subcutaneous adipose tissue amount	abnormal skin morphology	abnormal cutaneous collagen fibril morphology	abnormal dermal layer morphology	thick dermal layer	abnormal skin turgor	thick skin	skin fibrosis	abnormal skin tensile strength
Availability	Mouse Genotype	integument phenotype	decreased subcutaneous adipose tissue amount	abnormal skin morphology	abnormal cutaneous collagen fibril morphology	abnormal dermal layer morphology	thick dermal layer	abnormal skin turgor	thick skin	skin fibrosis	abnormal skin tensile strength
	Fbn1^tm2.1Lysa/Fbn1^tm2.1Lysa	*
	Fbn1^tm3.1Hcd/Fbn1^tm3.1Hcd
	Fbn1^tm3.2Lysa/Fbn1^tm3.2Lysa
	Fbn1^tm3Rmz/Fbn1^tm3Rmz
	Fbn1^tm2.1Hcd/Fbn1⁺
	Fbn1^tm3.1Hcd/Fbn1⁺
	Fbn1^tm3.2Lysa/Fbn1⁺

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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